(Q36996508)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23829769%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

SURF1 deficiency: a multi-centre natural history study (English)

1 reference

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4 March 2020

1

1 reference

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4 March 2020

Robert McFarland

3

1 reference

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4 March 2020

David Thorburn

9

1 reference

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4 March 2020

Erlend Aasheim

15

1 reference

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4 March 2020

Robert William Taylor

10

object named as

Robert W Taylor

1 reference

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4 March 2020

5

Andrew A M Morris

1 reference

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4 March 2020

20

Shamima Rahman

1 reference

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4 March 2020

18

Anupam Chakrapani

1 reference

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4 March 2020

13

Angus Dobbie

1 reference

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4 March 2020

4

Joy Yaplito-Lee

1 reference

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4 March 2020

author name string

Ruth M Brown

2

1 reference

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4 March 2020

Mike Champion

6

1 reference

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4 March 2020

Phillip E Jardine

7

1 reference

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4 March 2020

Antonia Clarke

8

1 reference

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4 March 2020

John M Land

11

1 reference

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4 March 2020

Katharine Forrest

12

1 reference

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4 March 2020

Louise Simmons

14

1 reference

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4 March 2020

David Ketteridge

16

1 reference

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4 March 2020

Donncha Hanrahan

17

1 reference

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4 March 2020

Garry K Brown

19

1 reference

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4 March 2020

publication date

5 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23829769%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

4 March 2020

published in

1 reference

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4 March 2020

volume

8

1 reference

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4 March 2020

page(s)

96

1 reference

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-96

4 March 2020

exact match

0 references

cites work

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Complex I deficiency: clinical features, biochemistry and molecular genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Role of Surf1 in heme recruitment for bacterial COX biogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Invited article: an MRI-based approach to the diagnosis of white matter disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

SURF1 missense mutations promote a mild Leigh phenotype.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

A SURF1 gene mutation presenting as isolated leukodystrophy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706230

Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-96

Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-96

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-8-96

MRI in Leigh syndrome with SURF1 gene mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23829769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SURF1-associated Leigh syndrome: a case series and novel mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23829769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23829769%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23829769%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23829769%20AND%20SRC:MED&resulttype=core&format=json